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Table 1 Hurdles in precision medicine and precision public health within data, study, model development, and deployment phases

From: Big data hurdles in precision medicine and precision public health

Precision medicine

 • Concentration on individualized treatment and neglect of time component of predictions, i.e. early risk vs. differential diagnosis vs. post-treatment survival

 • Too much focus on genetics and –omics

 • Research on actionable factors vs. immutable risk factors

 • Integration of multi-omics

 • Integration of multi-domain data (e.g. genetics, diet, lifestyle, social)

Precision public health

 • Definition of target units (e.g. ethnic groups, geographic zones, social groups)

 • Conflict with precision medicine, i.e. individual-centric objectives (benefit of the single may not translate into benefit of the population)

 • Population-level outcomes

Data sources

Study designs

Prediction modelling

Translational relevance

 • Heterogeneous data sources

 • Unstructured data sources

 • Lack of data on social determinants of health

 • Measurement issues (e.g. incompleteness, inaccuracy, imprecision in self-reported data)

 • Privacy and security

 • Cost

 • Limited adoption of common data models

• Semantic data integration (i.e. linking data elements by their meaning)

• Large longitudinal cohorts

• Ontology integration

• Ontology appropriateness (e.g. ontologies made for billing vs. for diagnostic purposes)

• Semantic interoperability

• Automated study design

• Biases of all sorts (e.g. protopathic)

• Confounding

• Causal inference

• Black-boxes vs. white-boxes (i.e. interpretability vs. performance)

• Complexity-based model selection

• Benchmark development

• Pragmatic interoperability (reproducibility, replicability, generalizability)

• Limited individual empowerment

• Disconnect from relevant clinical research

• Personal health record/health avatar (besides provider’s electronic records)

• Acceptance of artificial intelligence as integral part of doctors’ tools

• Learning systems

• Ethical usage and dissemination of modelling algorithms

• Redefining disease phenotype